Publications:

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Association analysis of 10 candidate genes causing Mendelian calcium nephrolithiasis in the INCIPE study: a South European general population cohort.

Clinical Kidney Journal

Santoro, Gloria G; Lombardi, Gianmarco G; Andreola, Stefano S; Salvagno, Gian Luca GL; Treccani, Mirko M; Locatelli, Elena E; Ferraro, Pietro Manuel PM; Lippi, Giuseppe G; Malerba, Giovanni G; Gambaro, Giovanni G

Publication Date: 2023-03

Variant appearance in text: rs114368325

PubMed Link: 36865011

Variant Present in the following documents:

• Main text
• sfac225.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: CYP24A1: 1186C>G; Arg396Gly; rs114368325

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The Multifarious Link between Cytochrome P450s and Cancer.

Oxidative Medicine And Cellular Longevity

Alzahrani, Abdullah M AM; Rajendran, Peramaiyan P

Publication Date: 2020

Variant appearance in text: rs114368325

PubMed Link: 31998435

Variant Present in the following documents:

• Main text
• OMCL2020-3028387.pdf

View BVdb publication page

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Juvenile onset IIH and CYP24A1 mutations.

Bone Reports

Schlingmann, Karl P KP; Cassar, Walburga W; Konrad, Martin M

Publication Date: 2018-12

Variant appearance in text: rs114368325

PubMed Link: 30591926

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports

John, Sumi Elsa SE; Antony, Dinu D; Eaaswarkhanth, Muthukrishnan M; Hebbar, Prashantha P; Channanath, Arshad Mohamed AM; Thomas, Daisy D; Devarajan, Sriraman S; Tuomilehto, Jaakko J; Al-Mulla, Fahd F; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA

Publication Date: 2018-11-08

Variant appearance in text: rs114368325

PubMed Link: 30409984

Variant Present in the following documents:

• Main text
• 41598_2018_Article_34815.pdf

View BVdb publication page

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Cytochrome P450: Polymorphisms and Roles in Cancer, Diabetes and Atherosclerosis

Asian Pacific Journal Of Cancer Prevention : Apjcp

Elfaki, Imadeldin I; Mir, Rashid R; Almutairi, Fahad M FM; Duhier, Faisel M Abu FMA

Publication Date: 2018-08-24

Variant appearance in text: rs114368325

PubMed Link: 30139042

Variant Present in the following documents:

• Main text
• APJCP-19-2057.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs114368325

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs114368325

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: rs114368325

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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